rs797045071

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs797045071(C;C)

Make rs797045071(C;G)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

92047181

Gene

SPTLC1

is a	snp
is	mentioned by
dbSNP	rs797045071
dbSNP (classic)	rs797045071
ClinGen	rs797045071
ebi	rs797045071
HLI	rs797045071
Exac	rs797045071
Gnomad	rs797045071
Varsome	rs797045071
LitVar	rs797045071
Map	rs797045071
PheGenI	rs797045071
Biobank	rs797045071
1000 genomes	rs797045071
hgdp	rs797045071
ensembl	rs797045071
geneview	rs797045071
scholar	rs797045071
google	rs797045071
pharmgkb	rs797045071
gwascentral	rs797045071
openSNP	rs797045071
23andMe	rs797045071
SNPshot	rs797045071
SNPdbe	rs797045071
MSV3d	rs797045071
GWAS Ctlg	rs797045071

Max Magnitude

0

ClinVar
Risk	rs797045071(C;C)
Alt	rs797045071(C;C)
Reference	Rs797045071(G;G)
Significance	Probable-Pathogenic
Disease	Neuropathy hereditary sensory and autonomic type 1
Variation	info
Gene	SPTLC1
CLNDBN	Neuropathy hereditary sensory and autonomic type 1
Reversed	1
HGVS	NC_000009.11:g.94809463C>G
CLNSRC	Baylor College of Medicine
CLNACC	RCV000191132.1,